Variant report

Variant	rs603227
Chromosome Location	chr1:211784451-211784452
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:211746810..211749692-chr1:211783974..211785917,2	MCF-7	breast:
2	chr1:211781693..211784457-chr1:211822859..211825401,2	K562	blood:
3	chr1:211749761..211758387-chr1:211774495..211787871,24	K562	blood:
4	chr1:211782443..211790536-chr1:211800686..211806134,8	K562	blood:
5	chr1:211749584..211755940-chr1:211774898..211785859,28	K562	blood:
6	chr1:211777656..211789537-chr1:211792028..211798981,15	K562	blood:
7	chr1:211757578..211759628-chr1:211782776..211785565,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000261314	Chromatin interaction
ENSG00000170385	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10157989	1.00[JPT][hapmap]
rs10158740	1.00[JPT][hapmap]
rs10494940	1.00[JPT][hapmap]
rs11580557	1.00[JPT][hapmap]
rs12239534	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12711507	1.00[JPT][hapmap]
rs17651870	1.00[JPT][hapmap]
rs28408172	0.82[ASN][1000 genomes]
rs28719917	0.81[EUR][1000 genomes]
rs4279905	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs4345851	0.86[ASN][1000 genomes]
rs4399227	0.86[ASN][1000 genomes]
rs4562684	0.86[ASN][1000 genomes]
rs4951414	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4951417	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs4951420	1.00[JPT][hapmap]
rs61851767	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs633972	0.82[ASN][1000 genomes]
rs6540692	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs765202	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9430076	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211771600-211786200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:211777000-211786600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:211777200-211786200	Weak transcription	NHLF	lung
4	chr1:211779200-211784600	Weak transcription	Right Atrium	heart
5	chr1:211779600-211784600	Weak transcription	Lung	lung
6	chr1:211780000-211784800	Weak transcription	Esophagus	oesophagus
7	chr1:211780800-211786400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:211781000-211784600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:211781000-211785400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:211781000-211786400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:211781200-211785000	Enhancers	Liver	Liver
12	chr1:211781200-211785200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:211781200-211786200	Enhancers	K562	blood
14	chr1:211781400-211786400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:211781600-211787000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr1:211781800-211784800	Weak transcription	Placenta	Placenta
17	chr1:211781800-211786400	Weak transcription	Stomach Mucosa	stomach
18	chr1:211781800-211792000	Weak transcription	Primary B cells from cord blood	blood
19	chr1:211782000-211784600	Weak transcription	Pancreas	Pancrea
20	chr1:211782000-211784800	Weak transcription	Colonic Mucosa	Colon
21	chr1:211782000-211785200	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr1:211782000-211786600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr1:211782000-211786600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr1:211782200-211787400	Weak transcription	Small Intestine	intestine
25	chr1:211782600-211786200	Weak transcription	Fetal Intestine Large	intestine
26	chr1:211782600-211786200	Enhancers	Hela-S3	cervix
27	chr1:211782600-211786200	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr1:211782800-211785400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:211782800-211785400	Flanking Active TSS	HepG2	liver
30	chr1:211782800-211785600	Enhancers	Fetal Muscle Trunk	muscle
31	chr1:211782800-211787400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr1:211783000-211786200	Weak transcription	Fetal Intestine Small	intestine
33	chr1:211783000-211786400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:211783200-211784600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:211783200-211784600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr1:211783400-211784600	Weak transcription	Ovary	ovary
37	chr1:211783800-211786600	Weak transcription	Gastric	stomach
38	chr1:211784000-211785600	Enhancers	Adipose Nuclei	Adipose
39	chr1:211784000-211787000	Enhancers	Colon Smooth Muscle	Colon
40	chr1:211784000-211787800	Enhancers	Fetal Muscle Leg	muscle
41	chr1:211784000-211788400	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr1:211784200-211784600	Enhancers	Fetal Kidney	kidney
43	chr1:211784200-211784600	Enhancers	NH-A	brain
44	chr1:211784200-211784600	Enhancers	Osteobl	bone
45	chr1:211784200-211784800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:211784200-211784800	Enhancers	Duodenum Mucosa	Duodenum
47	chr1:211784200-211784800	Enhancers	NHEK	skin
48	chr1:211784200-211785000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:211784200-211785000	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr1:211784200-211785000	Enhancers	NHDF-Ad	bronchial

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